{"orpha":592564,"name":"GNAO1-related developmental delay-seizures-movement disorder spectrum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GNAO1-related neurodevelopmental disorder","GNAO1-related spectrum"],"definition":"A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-592564/","orphanet_url":"https://www.orpha.net/en/disease/detail/592564","names":{"fr":{"name":"Spectre de retard de développement-épilepsies-anomalies du mouvement lié à GNAO1","synonyms":["Spectre lié à GNAO1"],"definition":"Maladie neurologique génétique rare caractérisée par un spectre phénotypique de retard de développement et d'hypotonie léger à sévère, associé de manière inconstante à une déficience intellectuelle, à des crises d'épilepsie d'apparition précoce et à des troubles du mouvement à type de dystonie, d'ataxie, de chorée et de dyskinésie. L'imagerie cérébrale peut mettre en évidence un retard de myélinisation, un amincissement du corps calleux ou une atrophie cérébrale."},"de":{"name":"GNAO1-assoziierte Entwicklungsverzögerung-Krampfanfälle-Bewegungsstörungsspektrum","synonyms":["GNAO1-abhängiges Spektrum"],"definition":"Eine seltene genetisch bedingte neurologische Störung, die sich durch ein phänotypisches Spektrum von leichter bis schwerer Entwicklungsverzögerung und Hypotonie auszeichnet und in unterschiedlicher Weise mit Intelligenzminderung, früh einsetzenden Krampfanfällen und Bewegungsstörungen wie Dystonie, Ataxie, Chorea und Dyskinesie einhergeht. Die Bildgebung des Gehirns kann eine verzögerte Myelinisierung, ein dünnes Corpus Callosum oder eine zerebrale Atrophie zeigen."},"es":{"name":"Espectro de trastornos del movimiento-crisis-retraso del desarrollo asociado al gen GNAO1","synonyms":["Espectro asociado al gen GNAO1"],"definition":"Es un trastorno neurológico de origen genético poco frecuente caracterizado por un espectro fenotípico de retraso del desarrollo e hipotonía de leve a grave, asociado de forma variable con discapacidad intelectual, crisis de aparición precoz y trastornos del movimiento, como distonía, ataxia, corea y discinesia. Las neuroimágenes pueden mostrar retraso de la mielinización, adelgazamiento del cuerpo calloso o atrofia cerebral."},"it":{"name":"Ritardo dello sviluppo, convulsioni, disturbi del movimento correlati a GNAO1","synonyms":["Spettro correlato a GNAO1"]},"nl":{"name":"GNAO1-gerelateerd ontwikkelingsachterstand - insulten - bewegingsstoornis-spectrum","synonyms":["GNAO1-gerelateerd spectrum"],"definition":"Een zeldzame genetische neurologische aandoening, gekenmerkt door een fenotypisch spectrum van milde tot ernstige ontwikkelingsachterstand en hypotonie, variabel geassocieerd met intellectuele achterstand, vroeg optredende insulten, en bewegingsstoornissen zoals dystonie, ataxie, chorea en dyskinesie. Beeldvorming van hersenen toont mogelijk vertraagde myelinisatie, dun corpus callosum, of cerebrale atrofie."},"pt":{"name":"Espectro clínico de perturbação do desenvolvimento-convulsões-doença do movimento GNAO1-relacionado","synonyms":["Espectro clínico GNAO1-relacionado"],"definition":"Patologia neurológica genética rara caracterizado por um espectro fenotípico de atraso no desenvolvimento leve a grave e hipotonia, variavelmente associados a perturbação do desenvolvimento intelectual, convulsões de início precoce e distúrbios do movimento, como distonia, ataxia, coreia e discinésias. Os exames de neuro-imagem cerebral podem mostrar atraso da mielinização, corpo caloso fino ou atrofia cerebral."},"pl":{"name":"Spektrum zaburzeń związanych z GNAO1 obejmujących opóźnienie rozwoju, drgawki i ruchy mimowolne","synonyms":["Spektrum zaburzeń związanych z GNAO1"]},"cs":{"name":"Spektrum související s GNAO1 zahrnující vývojové opoždění, záchvaty a poruchu pohybu","synonyms":["GNAO1-related neurodevelopmental disorder","GNAO1-related spectrum"]},"uk":{"name":"GNAO1-повязаний спектр затримки розвитку-судом-рухових розладів","synonyms":["Повязаний з GNAO1 розлад нейророзвитку","Спектр, повязаний з GNAO1"],"definition":"A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy."},"zh":{"name":"GNAO1-related developmental delay-seizures-movement disorder spectrum","synonyms":["GNAO1-related spectrum"]},"tr":{"name":"GNAO1-related developmental delay-seizures-movement disorder spectrum","synonyms":["GNAO1-related spectrum"]}},"xrefs":[{"source":"OMIM","code":"617493","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035660","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680303","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":496916,"name":"Rare genetic hyperkinetic movement disorder","classifications":[156]},{"orpha":494457,"name":"Rare hyperkinetic movement disorder","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"GNAO1","name":"G protein subunit alpha o1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29758257[PMID]","hgnc":"4389","ensembl":"ENSG00000087258","omim":"139311","loci":["16q13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":75.0,"area":"Worldwide","status":"Validated","source":"26060304[PMID]_29758257[PMID]_30682224[PMID]_34122306[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}